Concepedia

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

Chloe Miu Mak, C. W. Lam, Tak-Shing Siu, Kwok‐Yin Chan, Wai‐Kwan Siu, W.L. Yeung, Joannie Hui, V. Wong, L.C.K. Low, C.H. Ko,

Molecular Genetics and Metabolism · 2009 · 18 citations · 13 references

DOI

Concepts

References

13

Levodopa-responsive dystonia

Alexandra Dürr, Roger Gil, Marie Vidailhet et al. · Brain · 2000 · 191 citations · Full text

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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

Lambert P.W.J. van den Heuvel, Bernadette Luiten, J.F. de Rijk-van Andel et al. · Human Genetics · 1998 · 109 citations

, , +17

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

Yoshiaki Furukawa, W. Graf, Hong-Nei Wong et al. · Neurology · 2001 · 107 citations

, , +11

Long-term course of <scp>l</scp> -dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

A. Schiller, Ron A. Wevers, Gerry Steenbergen et al. · Neurology · 2004 · 68 citations

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6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study

Tokiji Hanihara, K Inoue, Chiaki Kawanishi et al. · Movement Disorders · 1997 · 63 citations

, , +15